Reply to: Is Gauchian genotyping of GBA1 variants reliable?

Reply to: Is Gauchian genotyping of GBA1 variants reliable?

Saved in:

Bibliographic Details
Main Authors:	Marco Toffoli, Anthony H. V. Schapira, Fritz J. Sedlazeck, Christos Proukakis
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-05-01
Series:	Communications Biology
Online Access:	https://doi.org/10.1038/s42003-025-08060-5
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Is Gauchian genotyping of GBA1 variants reliable?
by: Nahid Tayebi, et al.
Published: (2025-05-01)

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
by: Marco Toffoli, et al.
Published: (2022-07-01)

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis
by: Aymeric Lanore, et al.
Published: (2025-08-01)

Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background
by: Emadeldin Hassanin, et al.
Published: (2025-06-01)

K-mer analysis of long-read alignment pileups for structural variant genotyping
by: Adam C. English, et al.
Published: (2025-04-01)

Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant
by: Jin Hwangbo, et al.
Published: (2025-04-01)

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants
by: Stefanie Lerche, et al.
Published: (2024-10-01)

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
by: Rodolfo Tonin, et al.
Published: (2025-01-01)

GBA mutations and Parkinson's disease in Brazil
by: Carlos R. M. Rieder

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants
by: Roberto Rozenberg, et al.
Published: (2025-01-01)

A novel allosteric GCase modulator prevents Tau accumulation in GBA1 WT and GBA1 L444P/L444P cellular models
by: Matteo Ciccaldo, et al.
Published: (2025-05-01)

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants
by: Stefanie Lerche, et al.
Published: (2025-05-01)

Male sex accelerates cognitive decline in GBA1 Parkinson’s disease
by: Silvia Paola Caminiti, et al.
Published: (2025-03-01)

Dual-Task Performance in GBA Parkinson’s Disease
by: Karin Srulijes, et al.
Published: (2017-01-01)

GBA1 Thr408Met mutation in a patient with Parkinson’s disease
by: Yi ZHAO, et al.
Published: (2025-06-01)

The Association between E326K of GBA and the Risk of Parkinson’s Disease
by: Yongpan Huang, et al.
Published: (2018-01-01)

Designing Primers with a Plant Signal Peptide to Enhance the Expression of GBA1 in Transgenic Soybean Plants
by: Zainab Tuama Aldahlee
Published: (2021-12-01)

6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols
by: Stef Bannink, et al.
Published: (2024-11-01)

Reply
by: Austin J. Rim, MD, et al.
Published: (2025-08-01)

Nurr1 deficiency impairs autophagy-lysosomal function through GBA-dependent transcriptional regulation in Parkinson’s disease pathogenesis
by: Cheng Cheng, et al.
Published: (2025-06-01)

Reply to Mitsuboshi, “Enhancing result reliability by addressing potential confounding factors”
by: Tomoyuki Ishigo, et al.
Published: (2025-03-01)

“They wanted to, but they just couldn’t get there”: GBA + implementation and gaps during the COVID-19 pandemic in Canada
by: Muhammad Haaris Tiwana, et al.
Published: (2025-05-01)

Comparative study of autonomic dysfunction between Parkinson’s disease with LRRK2, PRKN, and GBA mutations
by: Bárbara Maldotti Dalla Corte, et al.
Published: (2025-08-01)

Variant genotyping with gap filling.
by: Riku Walve, et al.
Published: (2017-01-01)

REPLY: Reply to Kumar and colleagues
by: James K. Kirklin, MD
Published: (2022-10-01)

Authors′ reply
by: H S Adenwalla
Published: (2006-07-01)

Effect of GBA Mutations on Phenotype of Parkinson’s Disease: A Study on Chinese Population and a Meta-Analysis
by: Yuan Zhang, et al.
Published: (2015-01-01)

Reply
by: Michael T. Lu, MD, MPH, et al.
Published: (2025-09-01)

Reply
by: Hemal P. Patel, MD, et al.
Published: (2025-11-01)

Reply
by: Abadh K. Chaurasia, PhD, et al.
Published: (2025-09-01)

Efficient GBA1 editing via HDR with ssODNs by outcompeting pseudogene-mediated gene conversion upon CRISPR/Cas9 cleavage
by: Joseph S. Lagas, et al.
Published: (2025-04-01)

The prevalence of the ABCB1-1Δ variant in a clinical veterinary setting: The risk of not genotyping.
by: Evy Beckers, et al.
Published: (2022-01-01)

Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study
by: Chiara Longo, et al.
Published: (2025-01-01)

Reply
by: Denis Vincent, MD, PhD, et al.
Published: (2025-05-01)

Reply
by: Syed B. Ali, MBBS, FRACP, et al.
Published: (2025-05-01)

Reply
by: Inderpal Randhawa, MD, et al.
Published: (2025-05-01)

Reply
by: Ana Láinez-Nuez, PhD, et al.
Published: (2025-05-01)

Reply
by: Muthukumaran Chinnasamy Sivaprakasam, CCST, et al.
Published: (2025-07-01)

Reply
by: Mauricio F. Villamar

Reply
by: Shiro Nakamori, MD, et al.
Published: (2025-08-01)